1: GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1 [ Homo sapiens ]

Official Symbol

GRIN1provided by HGNC

Official Full Name

glutamate receptor, ionotropic, N-methyl D-aspartate 1provided by HGNC

Primary source

HGNC:4584

See related

Ensembl:ENSG00000176884; HPRD:15926; 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; NMDA1; NMDAR1; GRIN1

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]

Go to reference sequence detailsTry our new Sequence Viewer

chromosome: 9; Location: 9q34.3See GRIN1 in MapViewer

Related Articles in PubMed

GeneRIFs: Gene References Into FunctionWhat's a GeneRIF?

1. Observational study of gene-disease association. (HuGE Navigator)

2. Observational study of gene-disease association. (HuGE Navigator)

3. deletion of the C terminus of the mGlu5a receptor abolishes both its interaction with the NMDA receptor and reciprocal inhibition of the receptors

4. the synaptic NMDA receptor extracellular signal-regulated kinase activation pathway is coupled to both NR2A and NR2B containing receptors

5. Observational study of gene-disease association. (HuGE Navigator)

6. Observational study of gene-disease association. (HuGE Navigator)

7. Observational study of gene-disease association. (HuGE Navigator)

8. Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

9. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)

10. Observational study of gene-disease association. (HuGE Navigator)

11. Observational study of gene-disease association. (HuGE Navigator)

12. Observational study of gene-disease association. (HuGE Navigator)

13. Observational study of gene-disease association. (HuGE Navigator)

14. Observational study of gene-disease association. (HuGE Navigator)

15. Observational study of gene-disease association. (HuGE Navigator)

16. Observational study of gene-disease association. (HuGE Navigator)

17. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)

18. Observational study of gene-disease association. (HuGE Navigator)

19. Significant associations in single-marker and haplotype-based analyses pf variants and schiophrenia with depressive symptoms.

20. Alteration of branch site consensus sequence and enhanced pre-mRNA splicing of an NMDAR1 intron not associated with schizophrenia.

21. involvement of the GRIN1 in the pathogenesis of bipolar disorder

22. Tested the association of two silent polymorphisms, a G/C substitution localized on the 5' UTR and an A/G substitution localized in exon 6, with schizophrenia and found no significant results. Haplotype analyses showed a borderline significant result.

23. Increased coassembly of NR1 and NR2B with PSD-95 may underlie one of the cellular mechanisms that contributes to in situ increased hyperexcitability, leading to seizure generation in focal cortical dysplasia.

24. Absolute levels of the eight NR1 transcripts by quantitative internally standardized RT-PCR assay were measured; expression was strongly attenuated in susceptible regions of Alzheimer's disease brain

25. Variants in NMDAR genes are associated with alcoholism and related traits.

26. NR3 nmda receptor subunits induce plasticity in NR1 with respect to subunit assembly and ligand binding/channel coupling that is unique among ligand-gated ion channel subunits.

27. A significant decrease in the phosphorylation level at serine 897 (S897) of the NMDA receptor type 1 (NR1) subunit was found in brains from patients with schizophrenia

28. the NR1 promoter is positively regulated by NF-kappaB site during neuronal differentiation by interacting with Sp3/Sp1

29. SIDS infants had increased mRNA in 6 nuclei of the mid-medulla, while protein was increased in the dorsal motor nucleus of the vagus (p = 0.04) and decreased in the nucleus of the spinal trigeminal tract (p = 0.03).

30. human cerebral endothelial cells express the message and protein for NMDA receptors.

31. A tendency to a decrease in the density of the NR1 upper band below control values is found in superior temporal cortex of bipolar and depressed patients, but not schizophrenics.

32. the three amino acid tail following the TM4 region of the N-methyl-D-aspartate receptor (NR) 2 subunits is sufficient to overcome endoplasmic reticulum retention of NR1-1a subunit

33. the rapidly and slowly degrading pools mainly consisted of the NR1 splice variants NR1-4a and NR1-2a. deglycosylation by endoglycosidase H indicated the presence of an immature form of NR1 that was retained in the endoplasmic reticulum.

34. the conformation of NR1 subunit homodimers is affected by the partner NR2 subunits during the formation of heteromeric receptor complexes

35. These results suggest that NR1 may play a role in carcinogenicity and cell death associated with one-electron reductions.

36. arginine 260 is necessary for both tPA-induced cleavage of the ATD of NR1 and tPA-induced potentiation of NMDA receptor signaling

37. molecular interaction between PSD-95 and nmda receptors: the effct of the NR1 splice variant on channel gating.

38. ApoEr2 can form a multiprotein complex with NMDA receptor subunits and PSD95

39. the combined effects of the polymorphisms in the GRIN1 and GRIN2B genes might be involved in the etiology of schizophrenia.

40. disulfide bridging and structural integrity within the NR1 N-terminal domain is requisite for cell surface N-methyl-D-aspartate receptor expression

41. NMDA receptors are expressed in human epidermis under physiological conditions especially in stratum granulosum. Their reduced expression within parakeratotic epidermis in psoriasis vulgaris may be evidence of impaired intracellular calcium influx.

42. Significant reductions were found in relative NMDA receptor binding in left hippocampal medication-free, but not antipsychotic-treated, schizophrenic patients.

43. NMDA receptor may play a role in the regulation of keratinocyte growth and differentiation

44. Genes for the NMDAR1 subunit is not frequently involved in the development of schizophrenia in the German population.

45. These results demonstrate that human T lymphocytes express the NR1 subunit of NMDA receptors, which are functionally active in controlling cell activation.

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Markers

Pathways

Homology

GeneOntology Provided by GOA

Preferred Names

NMDA receptor 1

Names

NMDA receptor 1

OTTHUMP00000022678

glutamate [NMDA] receptor subunit zeta 1

N-methyl-D-aspartate receptor channel, subunit zeta-1

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.

mRNA and Protein(s)