GRIN1 glutamate ionotropic receptor NMDA type subunit 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GRIN1provided by HGNC
Official Full Name: glutamate ionotropic receptor NMDA type subunit 1provided by HGNC
Primary source: HGNC:HGNC:4584
See related: Ensembl:ENSG00000176884 MIM:138249
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NR1; MRD8; GluN1; NMDA1; NDHMSD; NDHMSR; NMD-R1; NMDAR1
Summary: 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]
Expression: Restricted expression toward brain (RPKM 50.5) See more
Orthologs: mouse all

Genomic context

Location:: 9q34.3

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
109.20200228	current	GRCh38.p13 (GCF_000001405.39)	9	NC_000009.12 (137139092..137168759)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (140033609..140063214)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

De novo missense variants in GRIN1 identified in children with a set of neurological and neuropsychiatric conditiotion alter residues in the M2 re-entrant loop increasing NMDAR charge transfer in addition to varied and complex influences on NMDAR functional properties, which may underlie the patients' phenotypes.
Title: De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases.
The GluN1 ligand-binding domain (LBD) showed clear signals corresponding to each of the three N-glycans and indicated the reducing end of glycans at N440 and N771 potentially contacted nearby amino acids. Molecular dynamics simulations identified contacts between nearby amino acids and the N440- and N771-glycans. The distal portions of the N771-glycan also contacted the core residues of the nearby N471-glycan.
Title: Intradomain Interactions in an NMDA Receptor Fragment Mediate N-Glycan Processing and Conformational Sampling.
The CC genotype of grin1 gene has a divergent effect on visual and cognitive functions.
Title: Cognitive and physical disability in Egyptian patients with multiple sclerosis: genetic and optical coherence tomography study.
These findings reveal the structural mechanisms by which protons allosterically inhibit human GluN1-GluN2A receptor activity.
Title: Structural Basis of the Proton Sensitivity of Human GluN1-GluN2A NMDA Receptors.
Study provides evidence that rs11146020, rs138961287, and rs117783907 in the promoter region of the GRIN1 gene are associated with schizophrenia in a northern Chinese Han population.
Title: Association between polymorphisms in the GRIN1 gene 5' regulatory region and schizophrenia in a northern Han Chinese population and haplotype effects on protein expression in vitro.
The results of this study expand the phenotypic spectrum associated with GRIN1 mutations and highlight the important role of N-methyl-d-aspartate receptor signalling in the pathogenesis of polymicrogyria.
Title: De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
This study provides evidence that GRIN1 IS candidate genes for Dravet and Dravet-like phenotypes.
Title: Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome.
Glycans potentiate the effect of GluN1 and GluN2B receptors.
Title: Computationally Discovered Potentiating Role of Glycans on NMDA Receptors.
In this study, we report a success of the WES approach to the identification of a genetic cause of a challenging case, undiagnosed on clinical grounds. We identified the causative missense mutation (p.Met727Val) in exon 16 of the GRIN1 gene. As the p.Met727Val mutation shown by WES is in the same GluN1 domain, we infer that the pathogenic variant impact on NMDAR is likely similar to that induced by p.Glu662Lys mutation.
Title: Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy.
one base difference in the GRIN1M promoter sequence (G --> C) results in the inability of the sequence to form a parallel G-quadruplex.
Title: Structural switch from a multistranded G-quadruplex to single strands as a consequence of point mutation in the promoter of the human GRIN1 gene.

Submit: New GeneRIF Correction See all GeneRIFs (101)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant MedGen: C3280282 OMIM: 614254 GeneReviews: GRIN1-Related Neurodevelopmental Disorder	Compare labs
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE MedGen: C4693325 OMIM: 617820 GeneReviews: GRIN1-Related Neurodevelopmental Disorder	Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120-induced dephosphorylation of KV2.1 is dependent on NMDA receptor-mediated activation of protein phosphatase 2B or calcineurin	PubMed
	env	HIV-1 gp120 activates forward trafficking and surface clustering of NMDA receptors in membrane microdomains by a PKA-dependent phosphorylation of the NR1 C-terminal Ser897, followed by a PKC-dependent phosphorylation of Ser896	PubMed
	env	HIV-1 gp120-induced synapse loss requires sequential activation of CXCR4, IL-1beta receptor, and NMDA receptor	PubMed
	env	HIV-1 gp120 activates NMDA receptor directly and phosphorylates JNK through a gp120-mediated apoptotic pathway in human neuroblastoma cells	PubMed
	env	HIV-1 clade B gp120 significantly downregulates NMDA receptor gene and protein expression and levels of glutamine compared to clade C gp120	PubMed
	env	HIV-1 gp120-mediated human cell death involves the NMDA receptor complex; antagonists of the NMDA receptor reverse the gp120-mediated effects	PubMed
	env	HIV-1 gp120 causes an activation of phospholipase A2, resulting in the increased release of arachidonic acid, which may sensitize the NMDA receptor	PubMed
	env	HIV-1 gp120 binds to cells expressing epsilon1/zeta1 or epsilon2/zeta1 combined NMDA receptor subunits, but not to cells expressing a single epsilon1, epsilon2, or zeta1 NMDA receptor subunit	PubMed
Tat	tat	The gene expression of GRIN1 is significantly upregulated in both clade B and clade C Tat treated SK-N-MC neuroblastoma cells	PubMed
	tat	Ca(2+) influx through the NMDA receptor is necessary for HIV-1 Tat-induced synapse loss	PubMed
	tat	HIV-1 Tat-induced dendritic swellings that act in striatal neurons are regulated by NMDA and AMPA receptor-related events	PubMed
	tat	HIV-1 Tat upregulates the expression of NMDARs for the apoptosis of retinal pigmen epithelium (RPE) cells. Silencing of NMDARs by siRNA abolishes Tat-induced RPE apoptosis	PubMed
	tat	HIV-1 Tat-induced activation of spermine oxidase (SMO) activity involves NMDAR stimulation in human neuroblastoma	PubMed
	tat	HIV-1 Tat and methamphetamine inhibit the normal conjunction of signaling between D1 and NMDA receptors, resulting in neural dysfunction and death	PubMed
	tat	HIV-1 Tat interacts with NMDA receptors in primary neuronal-glial cultures and in hippocampal slice cultures	PubMed
	tat	Tat treatment causes activation of neuronal nitric oxide synthase (nNOS) through association with NMDA receptors	PubMed
	tat	HIV-1 Tat treatment induces the formation of complexes involving the low-density lipoprotein receptor-related protein (LRP), postsynaptic density protein-95 (PSD-95), and N-methyl-d-aspartic acid (NMDA) receptors at the neuron surface	PubMed
	tat	HIV-1 Tat-induced NMDA receptor activation is clade dependent. The Cys 30-Cys 31 motif in Tat is critical for the NMDA receptor activation	PubMed
	tat	HIV-1 Tat upregulates expression of NMDA receptor 1 in mixed cultures of human neurons and astrocytes	PubMed
	tat	HIV-1 Tat induces apoptosis of neurons and neurotoxicity through the activation of both NMDA and non-NMDA receptors	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Grin1 (e-PCR), detects polymorphism
- UniSTS:143260

GDB:451867 (e-PCR)
- UniSTS:157385

Homology

Homologs of the GRIN1 gene: The GRIN1 gene is conserved in Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, A.thaliana, and frog.
Orthologs from Annotation Pipeline: 239 organisms have orthologs with human gene GRIN1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to NMDA glutamate receptor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
NMDA glutamate receptor activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to NMDA glutamate receptor activity	IDA Inferred from Direct Assay more info	PubMed
NMDA glutamate receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
NMDA glutamate receptor activity	ISS Inferred from Sequence or Structural Similarity more info
NMDA glutamate receptor activity	TAS Traceable Author Statement more info	PubMed
amyloid-beta binding	ISS Inferred from Sequence or Structural Similarity more info
contributes_to calcium channel activity	IDA Inferred from Direct Assay more info	PubMed
calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info
calmodulin binding	ISS Inferred from Sequence or Structural Similarity more info
glutamate binding	IDA Inferred from Direct Assay more info	PubMed
glutamate-gated calcium ion channel activity	IDA Inferred from Direct Assay more info	PubMed
glycine binding	IDA Inferred from Direct Assay more info	PubMed
glycine binding	IMP Inferred from Mutant Phenotype more info	PubMed
ligand-gated ion channel activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
neurotransmitter binding	ISS Inferred from Sequence or Structural Similarity more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein-containing complex binding	ISS Inferred from Sequence or Structural Similarity more info
signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
signaling receptor binding	IEA Inferred from Electronic Annotation more info
transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
MAPK cascade	TAS Traceable Author Statement more info
adult locomotory behavior	IEA Inferred from Electronic Annotation more info
brain development	NAS Non-traceable Author Statement more info	PubMed
calcium ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
calcium ion transmembrane import into cytosol	IDA Inferred from Direct Assay more info	PubMed
calcium-mediated signaling	IEA Inferred from Electronic Annotation more info
cation transport	IDA Inferred from Direct Assay more info	PubMed
NOT cellular response to amyloid-beta	IGI Inferred from Genetic Interaction more info	PubMed
cerebral cortex development	IEA Inferred from Electronic Annotation more info
chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info	PubMed
conditioned taste aversion	IEA Inferred from Electronic Annotation more info
ephrin receptor signaling pathway	TAS Traceable Author Statement more info
excitatory chemical synaptic transmission	NAS Non-traceable Author Statement more info	PubMed
excitatory postsynaptic potential	ISS Inferred from Sequence or Structural Similarity more info
ionotropic glutamate receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
ionotropic glutamate receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
ionotropic glutamate receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
long-term memory	IEA Inferred from Electronic Annotation more info
male mating behavior	IEA Inferred from Electronic Annotation more info
negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
olfactory learning	IEA Inferred from Electronic Annotation more info
pons maturation	IEA Inferred from Electronic Annotation more info
positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
positive regulation of calcium ion transport into cytosol	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of cysteine-type endopeptidase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
positive regulation of excitatory postsynaptic potential	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of reactive oxygen species biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
prepulse inhibition	IEA Inferred from Electronic Annotation more info
propylene metabolic process	ISS Inferred from Sequence or Structural Similarity more info
protein heterotetramerization	ISS Inferred from Sequence or Structural Similarity more info
protein localization to postsynaptic membrane	IEA Inferred from Electronic Annotation more info
regulation of NMDA receptor activity	TAS Traceable Author Statement more info
regulation of axonogenesis	IEA Inferred from Electronic Annotation more info
regulation of dendrite morphogenesis	IEA Inferred from Electronic Annotation more info
regulation of long-term neuronal synaptic plasticity	IEA Inferred from Electronic Annotation more info
regulation of membrane potential	IBA Inferred from Biological aspect of Ancestor more info	PubMed
regulation of membrane potential	IDA Inferred from Direct Assay more info	PubMed
regulation of respiratory gaseous exchange	IEA Inferred from Electronic Annotation more info
regulation of synapse assembly	IEA Inferred from Electronic Annotation more info
regulation of synaptic plasticity	NAS Non-traceable Author Statement more info	PubMed
response to amphetamine	IEA Inferred from Electronic Annotation more info
response to ethanol	IDA Inferred from Direct Assay more info	PubMed
response to glycine	IDA Inferred from Direct Assay more info	PubMed
response to morphine	IEA Inferred from Electronic Annotation more info
sensory perception of pain	IEA Inferred from Electronic Annotation more info
social behavior	IEA Inferred from Electronic Annotation more info
suckling behavior	IEA Inferred from Electronic Annotation more info
synaptic transmission, glutamatergic	IEA Inferred from Electronic Annotation more info
visual learning	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
NMDA selective glutamate receptor complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
NMDA selective glutamate receptor complex	IDA Inferred from Direct Assay more info	PubMed
NMDA selective glutamate receptor complex	TAS Traceable Author Statement more info	PubMed
cell	IEA Inferred from Electronic Annotation more info
cell surface	ISS Inferred from Sequence or Structural Similarity more info	PubMed
cytoplasm	ISS Inferred from Sequence or Structural Similarity more info	PubMed
dendrite	IDA Inferred from Direct Assay more info	PubMed
dendritic spine	ISS Inferred from Sequence or Structural Similarity more info
endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
excitatory synapse	ISS Inferred from Sequence or Structural Similarity more info
glutamatergic synapse	IEA Inferred from Electronic Annotation more info
integral component of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
integral component of postsynaptic density membrane	IEA Inferred from Electronic Annotation more info
neuron projection	IBA Inferred from Biological aspect of Ancestor more info	PubMed
neuron projection	ISS Inferred from Sequence or Structural Similarity more info
plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
postsynaptic density	ISS Inferred from Sequence or Structural Similarity more info
postsynaptic membrane	ISS Inferred from Sequence or Structural Similarity more info
synapse	IBA Inferred from Biological aspect of Ancestor more info	PubMed
synapse	ISS Inferred from Sequence or Structural Similarity more info
synaptic cleft	ISS Inferred from Sequence or Structural Similarity more info
synaptic membrane	ISS Inferred from Sequence or Structural Similarity more info
synaptic vesicle	ISS Inferred from Sequence or Structural Similarity more info
terminal bouton	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: glutamate receptor ionotropic, NMDA 1

Names: N-methyl-D-aspartate receptor channel, subunit zeta-1; N-methyl-D-aspartate receptor subunit NR1; glutamate [NMDA] receptor subunit zeta-1; glutamate receptor, ionotropic, N-methyl D-aspartate 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011507.1 RefSeqGene

Range

4998..34600

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000832.7 → NP_000823.4 glutamate receptor ionotropic, NMDA 1 isoform GluN1-4a precursor

See identical proteins and their annotated locations for NP_000823.4

Status: REVIEWED

Description

Transcript Variant: This variant (GluN1-4a, also known as NR1-1) lacks an alternate in-frame exon and uses an alternate splice site in the 3' coding region, compared to variant GluN1-1a. The resulting protein (isoform GluN1-4a, also known as isoform NR1-1) is shorter and has a different C-terminus, compared to isoform GluN1-1a.

Source sequence(s)

AL929554, L13266

Consensus CDS

CCDS43910.1

UniProtKB/Swiss-Prot

Q05586

Related

ENSP00000360614.4, ENST00000371559.8

Conserved Domains (3) summary

cd06379
Location:8 → 383

PBP1_iGluR_NMDA_NR1; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the NR1, an essential channel-forming subunit of the NMDA receptor

cd13719
Location:395 → 799

PBP2_iGluR_NMDA_Nr1; The ligand-binding domain of the NR1 subunit of ionotropic NMDA (N-methyl-D-aspartate) glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily

pfam10562
Location:835 → 863

CaM_bdg_C0; Calmodulin-binding domain C0 of NMDA receptor NR1 subunit
NM_001185090.2 → NP_001172019.1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-3b precursor

See identical proteins and their annotated locations for NP_001172019.1

Status: REVIEWED

Description

Transcript Variant: This variant (GluN1-3b, also known as NR1-4) contains an alternate coding segment and uses a different splice site in the 3' coding region, compared to variant GluN1-1a. The resulting protein (isoform GluN1-3b, also known as isoform NR1-4) is longer and has a distinct C-terminus when it is compared to isoform GluN1-1a. This variant has also been named isoform 4b or NMDAR1-4b.

Source sequence(s)

AB208999, AF015731, AL929554, BU728516, L13268

Consensus CDS

CCDS55354.1

UniProtKB/Swiss-Prot

Q05586

UniProtKB/TrEMBL

Q59GW0

Related

ENSP00000360608.3, ENST00000371553.7

Conserved Domains (3) summary

cd06379
Location:8 → 404

PBP1_iGluR_NMDA_NR1; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the NR1, an essential channel-forming subunit of the NMDA receptor

cd13719
Location:416 → 820

PBP2_iGluR_NMDA_Nr1; The ligand-binding domain of the NR1 subunit of ionotropic NMDA (N-methyl-D-aspartate) glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily

pfam10562
Location:856 → 884

CaM_bdg_C0; Calmodulin-binding domain C0 of NMDA receptor NR1 subunit
NM_001185091.2 → NP_001172020.1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-5b precursor

See identical proteins and their annotated locations for NP_001172020.1

Status: REVIEWED

Description

Transcript Variant: This variant (GluN1-5b, also known as 5) contains an alternate coding segment, lacks a different alternate coding segment, and uses a different splice site in the 3' coding region, compared to variant GluN1-1a. The resulting protein (isoform GluN1-5b, also known as isoform 5) is shorter and has a distinct C-terminus when it is compared to isoform GluN1-1a. This variant has also been named isoform 3b or NMDAR1-3b.

Source sequence(s)

AB208999, AF015730, AL929554, BU728516, L13268

Consensus CDS

CCDS55355.1

UniProtKB/Swiss-Prot

Q05586

UniProtKB/TrEMBL

Q59GW0

Related

ENSP00000360615.3, ENST00000371560.4

Conserved Domains (3) summary

cd06379
Location:8 → 404

PBP1_iGluR_NMDA_NR1; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the NR1, an essential channel-forming subunit of the NMDA receptor

cd13719
Location:416 → 820

PBP2_iGluR_NMDA_Nr1; The ligand-binding domain of the NR1 subunit of ionotropic NMDA (N-methyl-D-aspartate) glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily

pfam10562
Location:856 → 884

CaM_bdg_C0; Calmodulin-binding domain C0 of NMDA receptor NR1 subunit
NM_007327.4 → NP_015566.1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor

See identical proteins and their annotated locations for NP_015566.1

Status: REVIEWED

Description

Transcript Variant: This variant (GluN1-1a, also known as NR1-3) represents the longest transcript and encodes protein isoform GluN1-1a (also known as isoform NR1-3).

Source sequence(s)

AL929554, D13515

Consensus CDS

CCDS7031.1

UniProtKB/Swiss-Prot

Q05586

Related

ENSP00000360616.3, ENST00000371561.8

Conserved Domains (3) summary

cd06379
Location:8 → 383

PBP1_iGluR_NMDA_NR1; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the NR1, an essential channel-forming subunit of the NMDA receptor

cd13719
Location:395 → 799

PBP2_iGluR_NMDA_Nr1; The ligand-binding domain of the NR1 subunit of ionotropic NMDA (N-methyl-D-aspartate) glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily

pfam10562
Location:835 → 863

CaM_bdg_C0; Calmodulin-binding domain C0 of NMDA receptor NR1 subunit
NM_021569.4 → NP_067544.1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-2a precursor

See identical proteins and their annotated locations for NP_067544.1

Status: REVIEWED

Description

Transcript Variant: This variant (GluN1-2a, also known as NR1-2) lacks an alternate in-frame exon in the 3' coding region, compared to variant GluN1-1a, resulting in a shorter protein (isoform GluN1-2a, also known as isoform NR1-2), compared to isoform GluN1-1a.

Source sequence(s)

AL929554, D13515, L13267

Consensus CDS

CCDS7032.1

UniProtKB/Swiss-Prot

Q05586

Related

ENSP00000360605.4, ENST00000371550.8

Conserved Domains (3) summary

cd06379
Location:8 → 383

PBP1_iGluR_NMDA_NR1; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the NR1, an essential channel-forming subunit of the NMDA receptor

cd13719
Location:395 → 799

PBP2_iGluR_NMDA_Nr1; The ligand-binding domain of the NR1 subunit of ionotropic NMDA (N-methyl-D-aspartate) glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily

pfam10562
Location:835 → 863

CaM_bdg_C0; Calmodulin-binding domain C0 of NMDA receptor NR1 subunit

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p13 Primary Assembly

Range

137139092..137168759

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005266073.4 → XP_005266130.1 glutamate receptor ionotropic, NMDA 1 isoform X1

See identical proteins and their annotated locations for XP_005266130.1

UniProtKB/Swiss-Prot

Q05586

Related

ENSP00000360601.4, ENST00000371546.8

Conserved Domains (3) summary

cd06379
Location:8 → 404

PBP1_iGluR_NMDA_NR1; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the NR1, an essential channel-forming subunit of the NMDA receptor

cd13719
Location:416 → 820

PBP2_iGluR_NMDA_Nr1; The ligand-binding domain of the NR1 subunit of ionotropic NMDA (N-methyl-D-aspartate) glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily

pfam10562
Location:856 → 884

CaM_bdg_C0; Calmodulin-binding domain C0 of NMDA receptor NR1 subunit
XM_005266072.3 → XP_005266129.1 glutamate receptor ionotropic, NMDA 1 isoform X3

See identical proteins and their annotated locations for XP_005266129.1

UniProtKB/TrEMBL

Q5VSF9

Related

ENSP00000360610.4, ENST00000371555.8

Conserved Domains (3) summary

cd06379
Location:8 → 404

PBP1_iGluR_NMDA_NR1; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the NR1, an essential channel-forming subunit of the NMDA receptor

cd13719
Location:416 → 820

PBP2_iGluR_NMDA_Nr1; The ligand-binding domain of the NR1 subunit of ionotropic NMDA (N-methyl-D-aspartate) glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily

pfam10562
Location:856 → 884

CaM_bdg_C0; Calmodulin-binding domain C0 of NMDA receptor NR1 subunit
XM_011518583.2 → XP_011516885.1 glutamate receptor ionotropic, NMDA 1 isoform X4

See identical proteins and their annotated locations for XP_011516885.1

Related

ENST00000471122.5

Conserved Domains (3) summary

cd06379
Location:8 → 404

PBP1_iGluR_NMDA_NR1; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the NR1, an essential channel-forming subunit of the NMDA receptor

cd13719
Location:416 → 820

PBP2_iGluR_NMDA_Nr1; The ligand-binding domain of the NR1 subunit of ionotropic NMDA (N-methyl-D-aspartate) glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily

pfam10562
Location:856 → 884

CaM_bdg_C0; Calmodulin-binding domain C0 of NMDA receptor NR1 subunit
XM_005266071.3 → XP_005266128.1 glutamate receptor ionotropic, NMDA 1 isoform X2

See identical proteins and their annotated locations for XP_005266128.1

UniProtKB/Swiss-Prot

Q05586

Conserved Domains (3) summary

cd06379
Location:8 → 383

PBP1_iGluR_NMDA_NR1; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the NR1, an essential channel-forming subunit of the NMDA receptor

cd13719
Location:395 → 799

PBP2_iGluR_NMDA_Nr1; The ligand-binding domain of the NR1 subunit of ionotropic NMDA (N-methyl-D-aspartate) glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily

pfam10562
Location:835 → 863

CaM_bdg_C0; Calmodulin-binding domain C0 of NMDA receptor NR1 subunit