Gene: GRIN1

Alternate names for this Gene: GluN1|MRD8|NDHMSD|NDHMSR|NMD-R1|NMDA1|NMDAR1|NR1

Gene 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.3

Description of this Gene: glutamate ionotropic receptor NMDA type subunit 1

Type of Gene: protein-coding

rs1554770044 in GRIN1 gene and Dysmorphic features PMID 28051072 2017 Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.

PMID 27164704 2016 Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

PMID 28389307 2017 De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

PMID 25864721 2015 GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

PMID 22606296 2012 Overstimulation of NMDA receptors impairs early brain development in vivo.

PMID 23933818 2013 GRIN2A mutations cause epilepsy-aphasia spectrum disorders.

PMID 23937349 2013 Integrative mechanisms of oriented neuronal migration in the developing brain.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 1834949 1991 Molecular cloning and characterization of the rat NMDA receptor.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 17315208 2007 Model of infantile spasms induced by N-methyl-D-aspartic acid in prenatally impaired brain.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 25838242 2015 The GluN2B subunit of N-methy-D-asparate receptor regulates the radial migration of cortical neurons in vivo.

PMID 2516786 1989 Luteinizing hormone and follicle stimulating hormone secretion patterns in boys throughout puberty measured using highly sensitive immunoradiometric assays.

PMID 22974439 2013 Functional insights from glutamate receptor ion channel structures.

PMID 22796429 2013 The NMDA receptor as a target for cognitive enhancement.

PMID 20890276 2010 Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

PMID 17910072 2007 The chromosome 9q subtelomere deletion syndrome.

PMID 16635252 2006 Knocking-down the NMDAR1 subunit in a limited amount of neurons in the rat hippocampus impairs learning.

PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

PMID 9526012 1998 Evidence for a tetrameric structure of recombinant NMDA receptors.

PMID 16402093 2006 The glutamate story.

PMID 7679115 1993 Molecular cloning and chromosomal localization of the key subunit of the human N-methyl-D-aspartate receptor.

PMID 16600850 2006 NMDA receptors, glial cells, and clinical medicine.

PMID 6306230 1983 Excitatory amino acids in synaptic transmission in the Schaffer collateral-commissural pathway of the rat hippocampus.

rs1554770659 in GRIN1 gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

rs797045047 in GRIN1 gene and Movement Disorders PMID 28051072 2017 Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.

PMID 28389307 2017 De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

PMID 27164704 2016 Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

PMID 17315208 2007 Model of infantile spasms induced by N-methyl-D-aspartic acid in prenatally impaired brain.

PMID 23933818 2013 GRIN2A mutations cause epilepsy-aphasia spectrum disorders.

PMID 16600850 2006 NMDA receptors, glial cells, and clinical medicine.

PMID 22974439 2013 Functional insights from glutamate receptor ion channel structures.

PMID 7679115 1993 Molecular cloning and chromosomal localization of the key subunit of the human N-methyl-D-aspartate receptor.

PMID 16402093 2006 The glutamate story.

PMID 20890276 2010 Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

PMID 16635252 2006 Knocking-down the NMDAR1 subunit in a limited amount of neurons in the rat hippocampus impairs learning.

PMID 25864721 2015 GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

PMID 9526012 1998 Evidence for a tetrameric structure of recombinant NMDA receptors.

PMID 2516786 1989 Luteinizing hormone and follicle stimulating hormone secretion patterns in boys throughout puberty measured using highly sensitive immunoradiometric assays.

PMID 23937349 2013 Integrative mechanisms of oriented neuronal migration in the developing brain.

PMID 6306230 1983 Excitatory amino acids in synaptic transmission in the Schaffer collateral-commissural pathway of the rat hippocampus.

PMID 22796429 2013 The NMDA receptor as a target for cognitive enhancement.

PMID 1834949 1991 Molecular cloning and characterization of the rat NMDA receptor.

PMID 22606296 2012 Overstimulation of NMDA receptors impairs early brain development in vivo.

PMID 25838242 2015 The GluN2B subunit of N-methy-D-asparate receptor regulates the radial migration of cortical neurons in vivo.

PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

PMID 17910072 2007 The chromosome 9q subtelomere deletion syndrome.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 19854944 2010 The NCBI BioSystems database.

rs1554770046 in GRIN1 gene and Muscle hypotonia PMID 16635252 2006 Knocking-down the NMDAR1 subunit in a limited amount of neurons in the rat hippocampus impairs learning.

PMID 1834949 1991 Molecular cloning and characterization of the rat NMDA receptor.

PMID 16402093 2006 The glutamate story.

PMID 20890276 2010 Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

PMID 17910072 2007 The chromosome 9q subtelomere deletion syndrome.

PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

PMID 28051072 2017 Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.

PMID 16600850 2006 NMDA receptors, glial cells, and clinical medicine.

PMID 23933818 2013 GRIN2A mutations cause epilepsy-aphasia spectrum disorders.

PMID 25864721 2015 GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

PMID 25838242 2015 The GluN2B subunit of N-methy-D-asparate receptor regulates the radial migration of cortical neurons in vivo.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 23937349 2013 Integrative mechanisms of oriented neuronal migration in the developing brain.

PMID 2516786 1989 Luteinizing hormone and follicle stimulating hormone secretion patterns in boys throughout puberty measured using highly sensitive immunoradiometric assays.

PMID 28389307 2017 De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

PMID 17315208 2007 Model of infantile spasms induced by N-methyl-D-aspartic acid in prenatally impaired brain.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 22974439 2013 Functional insights from glutamate receptor ion channel structures.

PMID 6306230 1983 Excitatory amino acids in synaptic transmission in the Schaffer collateral-commissural pathway of the rat hippocampus.

PMID 22606296 2012 Overstimulation of NMDA receptors impairs early brain development in vivo.

PMID 22796429 2013 The NMDA receptor as a target for cognitive enhancement.

PMID 27164704 2016 Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

PMID 7679115 1993 Molecular cloning and chromosomal localization of the key subunit of the human N-methyl-D-aspartate receptor.

PMID 9526012 1998 Evidence for a tetrameric structure of recombinant NMDA receptors.

rs1554770054 in GRIN1 gene and NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 27164704 2016 Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

PMID 28095420 2017 Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.

PMID 25864721 2015 GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

PMID 28228639 2017 GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.

PMID 28389307 2017 De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

PMID 26633542 2016 Clinical application of whole-exome sequencing across clinical indications.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.