GRIN1 - glutamate ionotropic receptor NMDA type subunit 1 Gene

Also Known as NR1; MRD8; GluN1; NMDA1; DEE101; NDHMSD; NDHMSR; NMD-R1; NMDAR1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2902

About GRIN1

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:137,139,154-137,168,756 (from NCBI)

This gene has 17 transcripts (splice variants), 273 orthologues, 17 paralogues and is associated with 8 phenotypes. Restricted expression toward brain (RPKM 50.5).

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]

GRIN1 Products (5)

mRNA	Protein	Name
NM_000832.7	NP_000823.4	glutamate receptor ionotropic, NMDA 1 isoform GluN1-4a precursor
NM_001185090.2	NP_001172019.1	glutamate receptor ionotropic, NMDA 1 isoform GluN1-3b precursor
NM_001185091.2	NP_001172020.1	glutamate receptor ionotropic, NMDA 1 isoform GluN1-5b precursor
NM_007327.4	NP_015566.1	glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor
NM_021569.4	NP_067544.1	glutamate receptor ionotropic, NMDA 1 isoform GluN1-2a precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to NMDA glutamate receptor activity	IDA IDA: Inferred from direct assay	7679115	GOA
enables NMDA glutamate receptor activity	IDA IDA: Inferred from direct assay	7681588	GOA
enables NMDA glutamate receptor activity	IMP IMP: Inferred from mutant phenotype	28228639	GOA
contributes to calcium channel activity	IDA IDA: Inferred from direct assay	7685113	GOA
enables glutamate binding	IDA IDA: Inferred from direct assay	7685113	GOA
enables glutamate-gated calcium ion channel activity	IDA IDA: Inferred from direct assay	7679115	GOA
enables glycine binding	IDA IDA: Inferred from direct assay	7685113	GOA
enables glycine binding	IMP IMP: Inferred from mutant phenotype	17047094	GOA
enables ligand-gated sodium channel activity	IDA IDA: Inferred from direct assay	21376300	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11937501	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in calcium ion transmembrane import into cytosol	IDA IDA: Inferred from direct assay	26875626	GOA
involved in calcium ion transmembrane transport	IDA IDA: Inferred from direct assay	7679115	GOA
NOT involved in cellular response to amyloid-beta	IGI IGI: Inferred from genetic interaction	21883149	GOA
involved in ionotropic glutamate receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	28228639	GOA
involved in monoatomic cation transport	IDA IDA: Inferred from direct assay	7685113	GOA
involved in regulation of membrane potential	IDA IDA: Inferred from direct assay	7679115	GOA
involved in response to ethanol	IDA IDA: Inferred from direct assay	18445116	GOA
involved in response to glycine	IDA IDA: Inferred from direct assay	28105280	GOA
involved in sodium ion transmembrane transport	IDA IDA: Inferred from direct assay	7679115	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of NMDA selective glutamate receptor complex	IDA IDA: Inferred from direct assay	7679115	GOA
located in dendrite	IDA IDA: Inferred from direct assay	10749211	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	7685113	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GRIN1 Protein Structure

ANF_receptor

SBP_bac_3

Lig_chan

CaM_bdg_C0

0
200
400
600
800
938 a.a.

Protein Preferred Names	Protein Names
glutamate receptor ionotropic, NMDA 1	N-methyl-D-aspartate receptor channel, subunit zeta-1

GRIN1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80247	NMDAR1 Antibody (YA265)	WB, IHC-P, IHC-F, IF-Tissue	Human, Mouse, Rat, Monkey, Pig

Related Diseases

Diseases	Alias
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	NDHMSR Neurodevelopmental Disorder With Hyperkinetic Movements With Or Without Seizures, Autosomal Recessive
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	NDHMSD Mental Retardation, Autosomal Dominant 8, Formerly Mrd8, Formerly Mrd8 Neurodevelopmental Disorder With Hyperkinetic Movements And With Or Without Seizures, Autosomal Dominant Mental Retardation, Autosomal Dominant 8
Developmental And Epileptic Encephalopathy 101	DEE101
Autosomal Dominant Intellectual Developmental Disorder 8	Autosomal Dominant Non-Syndromic Intellectual Disability 8 Mental Retardation, Autosomal Dominant 8 Autosomal Dominant Mental Retardation 8 Mrd8
Bilateral Generalized Polymicrogyria	Bilateral Generalised Polymicrogyria
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
Autosomal Dominant Non-Syndromic Intellectual Disability
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile
Ocular Dominance
Febrile Seizures	Febrile Seizure Febrile Convulsions Seizures Febrile
Amblyopia	Lazy Eye
Morphine Dependence
Lingual-Facial-Buccal Dyskinesia	Orofacial Dyskinesia Oro-Facial Dyskinesia Dyskinesias
Cortical Blindness	Blindness, Cortical
Temporal Lobe Epilepsy	Epilepsy, Temporal Lobe Epilepsy Temporal Lobe
La Crosse Encephalitis	California Encephalitis California Virus Encephalitis Neuroinvasive California Encephalitis Virus Infection Californian Encephalitis Encephalitis, California California Meningoencephalitis California Encephalitis Virus Infection California Encephalitis Virus Infection Neuroinvasive Disease California Meningoencephalitis Virus Disease California Serogroup Virus Neuroinvasive Disease California Viral Encephalitis Ce - [California Encephalitis] Lac - [La Crosse Encephalitis]
Cataract 23, Multiple Types	Cataract 23 CTRCT23 Lamellar Cataract 23 Cataract 23, Multiple Types, With Or Without Microcornea Isolated Microphthalmia With Cataract 4 Mcopct4 Cataract, Type 23 Microphthalmia, Isolated, With Cataract 4
Bipolar Disorder	Bipolar Depression Manic Disorder Depression, Bipolar Bipolar Disorder Manic Phase Depressive-Manic Psych. Manic Bipolar Affective Disorder Manic Bipolar I Disorder Manic Depression Manic Depressive Disorder Mixed Bipolar Disorder Bipolar Affective Disorder Bipolar Affective Psychosis Bipolar Spectrum Disorder Manic Depressive Illness Depression Bipolar Bipolar Disorder, Mixed Major Affective Disorder Major Affective Disorder 1 Major Affective Disorder 2
High Pressure Neurological Syndrome
Temporal Lobe Neoplasm	Neoplasm Of Temporal Lobe Malignant Neoplasm Of Temporal Lobe Tumor Of Temporal Lobe
Status Epilepticus	Grand Mal Status Epilepticus Grand Mal Status Gcse Generalized Convulsive Status Epilepticus Se Epilepsy With Status Epilepticus
Sudden Infant Death Syndrome	SIDS Sudden Infant Death Syndrome, Susceptibility To Cot Death Crib Death Sudden Death Of Nonspecific Cause In Infancy Sudden Infant Death Death, Sudden, Syndrome, Infant
Mutism
Alcohol Dependence	Alcoholism Alcohol Dependence, Susceptibility To Alcohol Dependence, Protection Against Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against Alcoholism, Susceptibility To Alcoholic Intoxication, Chronic Pharyngeal Neoplasms Chronic Alcoholism Dipsomania Alcohol Addiction Ethanol Dependence Chronic Ethanolism Chronic Alcoholic Disease Nos Alcoholic Disease Nos Alcoholic
Schizophrenia 7	SCZD7 Schizophrenia Susceptibility Locus, Chromosome 13q-Related Schizophrenia 7 With Or Without An Affective Disorder
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Polymicrogyria	Pmg
Autosomal Dominant Intellectual Developmental Disorder 6	Autosomal Dominant Non-Syndromic Intellectual Disability 6 Autosomal Dominant Mental Retardation 6 Mrd6 Mental Retardation, Autosomal Dominant, Type 6 Mental Retardation, Autosomal Dominant 6
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Fragile X Syndrome	FXS Martin-Bell Syndrome Fraxa Syndrome Marker X Syndrome X-Linked Mental Retardation And Macroorchidism Fragile X Mental Retardation Syndrome Fra Syndrome Mental Retardation, X-Linked, Associated With Marxq28 X-Linked Intellectual Disability And Macroorchidism Frax Syndrome Symptomatic Form Of Fragile X Syndrome In Female Carriers Fragile-X Syndrome Fraxe Syndrome
Akinetopsia
Mood Disorder	Mood Disorders Episodic Mood Disorder
Landau-Kleffner Syndrome	Acquired Epileptic Aphasia Lks Acquired Aphasia With Convulsive Disorder Acquired Epileptiform Aphasia Landau Kleffner Syndrome Childhood Epileptic Aphasia
Rett Syndrome	Atypical Rett Syndrome RTT Rett Disorder Rts Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use Rett Syndrome, Preserved Speech Variant Rett Syndrome, Atypical Rett'S Disorder Rett Syndrome Variant Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome Cerebroatrophic Hyperammonemia Rett Like Syndrome Rett'S Syndrome Atypical Rtt Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Rett Syndrome Preserved Speech Variant Rett Syndrome Zappella Variant Rett Syndrome, Zappella Variant
Speech Disorder	Speech Disorders
Drug-Induced Mental Disorder
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Huntington Disease	Huntington'S Disease Huntington Chorea Huntington'S Chorea HD Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea
Psychotic Disorder	Psychotic Disorders Mental Or Behavioural Disorder Psychotic Mental Disorders
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05803	GRIN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS05754	GPRIN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20948	Grin1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27465	Grin1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GRIN1	RGD	RGD:2736
Macaca mulatta	GRIN1	VGNC	VGNC:73281
Mus musculus	GRIN1	MGD	MGI:95819
Canis familiaris	GRIN1	VGNC	VGNC:41491
Bos taurus	GRIN1	VGNC	VGNC:29645
Felis catus	GRIN1	VGNC	VGNC:82437
Others	GRIN1	NCBI