UniProtKB - Q05586 (NMDZ1_HUMAN)
Glutamate receptor ionotropic, NMDA 1
GRIN1
Functioni
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 Mg2+ (PubMed:7685113, PubMed:28126851, PubMed:26919761, PubMed:26875626, PubMed:28105280).
Sensitivity to glutamate and channel kinetics depend on the subunit composition (PubMed:26919761).
5 PublicationsSites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 523 | GlycineCombined sources3 Publications | 1 | |
Binding sitei | 688 | GlycineCombined sources3 Publications | 1 | |
Binding sitei | 732 | GlycineCombined sources3 Publications | 1 |
GO - Molecular functioni
- amyloid-beta binding Source: ARUK-UCL
- calcium ion binding Source: UniProtKB
- calmodulin binding Source: UniProtKB
- glutamate binding Source: UniProtKB
- glutamate-gated calcium ion channel activity Source: UniProtKB
- glycine binding Source: UniProtKB
- ligand-gated ion channel activity Source: GO_Central
- neurotransmitter binding Source: BHF-UCL
- NMDA glutamate receptor activity Source: UniProtKB
- protein-containing complex binding Source: ARUK-UCL
- signaling receptor activity Source: GO_Central
GO - Biological processi
- brain development Source: ARUK-UCL
- calcium ion homeostasis Source: UniProtKB
- calcium ion transmembrane import into cytosol Source: UniProtKB
- cation transport Source: UniProtKB
- chemical synaptic transmission Source: GO_Central
- excitatory chemical synaptic transmission Source: ARUK-UCL
- excitatory postsynaptic potential Source: UniProtKB
- ionotropic glutamate receptor signaling pathway Source: UniProtKB
- positive regulation of calcium ion transport into cytosol Source: ARUK-UCL
- positive regulation of cysteine-type endopeptidase activity Source: ARUK-UCL
- positive regulation of excitatory postsynaptic potential Source: BHF-UCL
- positive regulation of reactive oxygen species biosynthetic process Source: ARUK-UCL
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- propylene metabolic process Source: BHF-UCL
- protein heterotetramerization Source: UniProtKB
- regulation of membrane potential Source: UniProtKB
- regulation of synaptic plasticity Source: ARUK-UCL
- response to ethanol Source: UniProtKB
- response to glycine Source: UniProtKB
- visual learning Source: UniProtKB
Keywordsi
Molecular function | Ion channel, Ligand-gated ion channel, Receptor |
Biological process | Ion transport, Transport |
Ligand | Calcium, Magnesium |
Enzyme and pathway databases
PathwayCommonsi | Q05586 |
Reactomei | R-HSA-3928662, EPHB-mediated forward signaling R-HSA-438066, Unblocking of NMDA receptors, glutamate binding and activation R-HSA-442982, Ras activation upon Ca2+ influx through NMDA receptor R-HSA-5673001, RAF/MAP kinase cascade R-HSA-6794361, Neurexins and neuroligins R-HSA-8849932, Synaptic adhesion-like molecules R-HSA-9609736, Assembly and cell surface presentation of NMDA receptors R-HSA-9617324, Negative regulation of NMDA receptor-mediated neuronal transmission R-HSA-9620244, Long-term potentiation |
SignaLinki | Q05586 |
SIGNORi | Q05586 |
Protein family/group databases
TCDBi | 1.A.10.1.20, the glutamate-gated ion channel (gic) family of neurotransmitter receptors |
Names & Taxonomyi
Protein namesi | Recommended name: Glutamate receptor ionotropic, NMDA 1Short name: GluN1 Alternative name(s): Glutamate [NMDA] receptor subunit zeta-1 N-methyl-D-aspartate receptor subunit NR1 Short name: NMD-R1 |
Gene namesi | Name:GRIN1 Synonyms:NMDAR1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4584, GRIN1 |
MIMi | 138249, gene |
neXtProti | NX_Q05586 |
VEuPathDBi | HostDB:ENSG00000176884 |
Subcellular locationi
Plasma membrane
- Cell membrane 5 Publications; Multi-pass membrane protein By similarity
- postsynaptic cell membrane By similarity
Other locations
- postsynaptic density By similarity
Note: Enriched in postsynaptic plasma membrane and postsynaptic densities.By similarity
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: Reactome
Extracellular region or secreted
- synaptic cleft Source: BHF-UCL
Plasma Membrane
- integral component of plasma membrane Source: UniProtKB
- NMDA selective glutamate receptor complex Source: UniProtKB
- plasma membrane Source: UniProtKB
- postsynaptic membrane Source: UniProtKB
- synaptic membrane Source: ARUK-UCL
Other locations
- cell surface Source: BHF-UCL
- cytoplasm Source: ARUK-UCL
- dendrite Source: UniProtKB
- dendritic spine Source: BHF-UCL
- excitatory synapse Source: BHF-UCL
- neuron projection Source: UniProtKB
- postsynaptic density Source: UniProtKB
- synapse Source: UniProtKB
- synaptic vesicle Source: UniProtKB
- terminal bouton Source: BHF-UCL
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 19 – 559 | ExtracellularBy similarityAdd BLAST | 541 | |
Transmembranei | 560 – 580 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 581 – 602 | CytoplasmicBy similarityAdd BLAST | 22 | |
Intramembranei | 603 – 624 | Discontinuously helicalBy similarityAdd BLAST | 22 | |
Topological domaini | 625 – 630 | CytoplasmicBy similarity | 6 | |
Transmembranei | 631 – 647 | HelicalBy similarityAdd BLAST | 17 | |
Topological domaini | 648 – 812 | ExtracellularBy similarityAdd BLAST | 165 | |
Transmembranei | 813 – 833 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 834 – 938 | CytoplasmicBy similarityAdd BLAST | 105 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, SynapsePathology & Biotechi
Involvement in diseasei
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD)7 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079989 | 552 | D → E in NDHMSD; changed localization to the cell membrane; decreased glutamate-gated calcium ion channel activity. 3 PublicationsCorresponds to variant dbSNP:rs1554770054EnsemblClinVar. | 1 | |
Natural variantiVAR_079991 | 557 | P → R in NDHMSD; changed localization to the cell membrane; loss of glutamate-gated calcium ion channel activity. 3 PublicationsCorresponds to variant dbSNP:rs878853143EnsemblClinVar. | 1 | |
Natural variantiVAR_066597 | 560 | S → SS in NDHMSD; there is near abolition of the activity of the NMDA receptor in Xenopus oocytes; alters the 3-dimensional structure at the receptor's channel pore entrance. 1 Publication | 1 | |
Natural variantiVAR_079992 | 618 | G → R in NDHMSD; loss of function in calcium ion transmembrane import into cytosol. 1 Publication | 1 | |
Natural variantiVAR_079993 | 620 | G → R in NDHMSD; decreased localization to the plasma membrane of GRIN1/GRIN2B NMDA receptor complexes; changed glutamate-gated calcium ion channel activity; decreased activation by glutamate and glycine; decreased sensitivity to magnesium block; loss of function in calcium ion transmembrane import into cytosol. 2 PublicationsCorresponds to variant dbSNP:rs797045047EnsemblClinVar. | 1 | |
Natural variantiVAR_079994 | 641 | M → I in NDHMSD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1060500046EnsemblClinVar. | 1 | |
Natural variantiVAR_079995 | 645 | A → S in NDHMSD; unknown pathological significance; no effect on glutamate-gated calcium ion channel activity. 1 Publication | 1 | |
Natural variantiVAR_079996 | 647 | Y → S in NDHMSD; loss of glutamate-gated calcium ion channel activity. 1 Publication | 1 | |
Natural variantiVAR_079997 | 650 | N → K in NDHMSD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs771610568EnsemblClinVar. | 1 | |
Natural variantiVAR_066598 | 662 | E → K in NDHMSD; this mutation produces a significant increase in NMDA receptor-induced calcium currents; excessive calcium influx through NMDA receptor could lead to excitotoxic neuronal cell damage. 1 PublicationCorresponds to variant dbSNP:rs387906635EnsemblClinVar. | 1 | |
Natural variantiVAR_079998 | 688 | S → Y in NDHMSD. 1 Publication | 1 | |
Natural variantiVAR_079999 | 815 | G → R in NDHMSD; loss of glutamate-gated calcium ion channel activity. 2 PublicationsCorresponds to variant dbSNP:rs797044925EnsemblClinVar. | 1 | |
Natural variantiVAR_080000 | 815 | G → V in NDHMSD. 1 Publication | 1 | |
Natural variantiVAR_080001 | 817 | F → L in NDHMSD; decreased glutamate-gated calcium ion channel activity. 1 PublicationCorresponds to variant dbSNP:rs1554770624EnsemblClinVar. | 1 | |
Natural variantiVAR_080002 | 827 | G → R in NDHMSD; loss of function in calcium ion transmembrane import into cytosol. 2 PublicationsCorresponds to variant dbSNP:rs1451230055EnsemblClinVar. | 1 | |
Natural variantiVAR_080003 | 844 | R → C in NDHMSD; no effect on glutamate-gated calcium ion channel activity. 1 PublicationCorresponds to variant dbSNP:rs1554770667EnsemblClinVar. | 1 |
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive (NDHMSR)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079984 | 217 | R → W in NDHMSR; changed glutamate-gated calcium ion channel activity; increased inhibition by zinc. 1 PublicationCorresponds to variant dbSNP:rs200777850EnsemblClinVar. | 1 | |
Natural variantiVAR_079985 | 227 | D → H in NDHMSR; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs869312865Ensembl. | 1 | |
Natural variantiVAR_079990 | 556 – 938 | Missing in NDHMSR; loss of function in calcium ion transmembrane import into cytosol. 1 PublicationAdd BLAST | 383 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 813 | M → V: Slight decrease in glycine agonist potency; no effect on glutamate agonist potency. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 2902 |
GeneReviewsi | GRIN1 |
MalaCardsi | GRIN1 |
MIMi | 614254, phenotype 617820, phenotype |
OpenTargetsi | ENSG00000176884 |
Orphaneti | 178469, Autosomal dominant non-syndromic intellectual disability 208447, Bilateral generalized polymicrogyria |
PharmGKBi | PA28978 |
Miscellaneous databases
Pharosi | Q05586, Tclin |
Chemistry databases
ChEMBLi | CHEMBL2015 |
DrugBanki | DB01931, 5,7-Dichlorokynurenic acid DB00659, Acamprosate DB06151, Acetylcysteine DB08838, Agmatine DB01238, Aripiprazole DB00289, Atomoxetine DB05824, CNS-5161 DB04620, Cycloleucine DB03929, D-Serine DB00843, Donepezil DB00228, Enflurane DB11823, Esketamine DB13146, Fluciclovine (18F) DB06741, Gavestinel DB00142, Glutamic acid DB00874, Guaifenesin DB08954, Ifenprodil DB06738, Ketobemidone DB09409, Magnesium acetate tetrahydrate DB09481, Magnesium carbonate DB01043, Memantine DB00454, Meperidine DB00333, Methadone DB04896, Milnacipran DB01173, Orphenadrine DB00312, Pentobarbital DB01174, Phenobarbital DB01708, Prasterone DB00418, Secobarbital DB00193, Tramadol |
DrugCentrali | Q05586 |
GuidetoPHARMACOLOGYi | 455 |
Genetic variation databases
BioMutai | GRIN1 |
DMDMi | 548377 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 18 | Sequence analysisAdd BLAST | 18 | |
ChainiPRO_0000011587 | 19 – 938 | Glutamate receptor ionotropic, NMDA 1Add BLAST | 920 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 61 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 79 ↔ 308 | By similarity | ||
Glycosylationi | 203 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 239 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 276 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 300 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 350 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 368 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 420 ↔ 454 | Combined sources3 Publications | ||
Disulfide bondi | 436 ↔ 455 | Combined sources3 Publications | ||
Glycosylationi | 440 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 471 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 491 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 674 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 744 ↔ 798 | Combined sources3 Publications | ||
Glycosylationi | 771 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 889 | Phosphoserine; by PKC1 Publication | 1 | |
Modified residuei | 890 | Phosphoserine; by PKC1 Publication | 1 | |
Modified residuei | 896 | Phosphoserine; by PKC1 Publication | 1 | |
Modified residuei | 897 | Phosphoserine; by PKC1 Publication | 1 |
Post-translational modificationi
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
MassIVEi | Q05586 |
PaxDbi | Q05586 |
PeptideAtlasi | Q05586 |
PRIDEi | Q05586 |
ProteomicsDBi | 58336 [Q05586-1] 58337 [Q05586-2] 58338 [Q05586-3] 58339 [Q05586-4] 58340 [Q05586-5] 65258 65259 |
PTM databases
GlyGeni | Q05586, 13 sites, 1 O-linked glycan (1 site) |
iPTMneti | Q05586 |
PhosphoSitePlusi | Q05586 |
Expressioni
Gene expression databases
Bgeei | ENSG00000176884, Expressed in anterior cingulate cortex and 200 other tissues |
ExpressionAtlasi | Q05586, baseline and differential |
Genevisiblei | Q05586, HS |
Organism-specific databases
HPAi | ENSG00000176884, Tissue enriched (brain) |
Interactioni
Subunit structurei
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).
By similarity7 PublicationsBinary interactionsi
Q05586
With | #Exp. | IntAct |
---|---|---|
APP [P05067] | 3 | EBI-998542,EBI-77613 |
FUS [P35637] | 3 | EBI-998542,EBI-400434 |
Isoform 1 [Q05586-2]
With | #Exp. | IntAct |
---|---|---|
Dlg3 [Q62936] from Rattus norvegicus. | 3 | EBI-8286218,EBI-349596 |
GO - Molecular functioni
- calmodulin binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 109159, 53 interactors |
ComplexPortali | CPX-2202, NMDA receptor complex, GluN1-GluN2A CPX-285, NMDA receptor complex, GluN1-GluN2B CPX-286, NMDA receptor complex, GluN1-GluN2C CPX-289, NMDA receptor complex, GluN1-GluN2D CPX-294, NMDA receptor complex, GluN1-GluN2A-GluN2B |
CORUMi | Q05586 |
IntActi | Q05586, 11 interactors |
MINTi | Q05586 |
STRINGi | 9606.ENSP00000360608 |
Chemistry databases
BindingDBi | Q05586 |
Miscellaneous databases
RNActi | Q05586, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q05586 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q05586 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 516 – 518 | Glycine bindingCombined sources3 Publications | 3 | |
Regioni | 603 – 624 | Pore-formingBy similarityAdd BLAST | 22 | |
Regioni | 889 – 938 | DisorderedSequence analysisAdd BLAST | 50 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 917 – 938 | Basic and acidic residuesSequence analysisAdd BLAST | 22 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG4440, Eukaryota |
GeneTreei | ENSGT00940000158016 |
HOGENOMi | CLU_007257_2_0_1 |
InParanoidi | Q05586 |
OMAi | SGFYHIP |
OrthoDBi | 188544at2759 |
PhylomeDBi | Q05586 |
TreeFami | TF351405 |
Family and domain databases
InterProi | View protein in InterPro IPR001828, ANF_lig-bd_rcpt IPR018882, CaM-bd_C0_NMDA_rcpt_NR1 IPR019594, Glu/Gly-bd IPR001508, Iono_rcpt_met IPR001320, Iontro_rcpt IPR028082, Peripla_BP_I |
Pfami | View protein in Pfam PF01094, ANF_receptor, 1 hit PF10562, CaM_bdg_C0, 1 hit PF00060, Lig_chan, 1 hit PF10613, Lig_chan-Glu_bd, 1 hit |
PRINTSi | PR00177, NMDARECEPTOR |
SMARTi | View protein in SMART SM00918, Lig_chan-Glu_bd, 1 hit SM00079, PBPe, 1 hit |
SUPFAMi | SSF53822, SSF53822, 1 hit |
s (7+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 7 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 7 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSTMRLLTLA LLFSCSVARA ACDPKIVNIG AVLSTRKHEQ MFREAVNQAN
60 70 80 90 100
KRHGSWKIQL NATSVTHKPN AIQMALSVCE DLISSQVYAI LVSHPPTPND
110 120 130 140 150
HFTPTPVSYT AGFYRIPVLG LTTRMSIYSD KSIHLSFLRT VPPYSHQSSV
160 170 180 190 200
WFEMMRVYSW NHIILLVSDD HEGRAAQKRL ETLLEERESK AEKVLQFDPG
210 220 230 240 250
TKNVTALLME AKELEARVII LSASEDDAAT VYRAAAMLNM TGSGYVWLVG
260 270 280 290 300
EREISGNALR YAPDGILGLQ LINGKNESAH ISDAVGVVAQ AVHELLEKEN
310 320 330 340 350
ITDPPRGCVG NTNIWKTGPL FKRVLMSSKY ADGVTGRVEF NEDGDRKFAN
360 370 380 390 400
YSIMNLQNRK LVQVGIYNGT HVIPNDRKII WPGGETEKPR GYQMSTRLKI
410 420 430 440 450
VTIHQEPFVY VKPTLSDGTC KEEFTVNGDP VKKVICTGPN DTSPGSPRHT
460 470 480 490 500
VPQCCYGFCI DLLIKLARTM NFTYEVHLVA DGKFGTQERV NNSNKKEWNG
510 520 530 540 550
MMGELLSGQA DMIVAPLTIN NERAQYIEFS KPFKYQGLTI LVKKEIPRST
560 570 580 590 600
LDSFMQPFQS TLWLLVGLSV HVVAVMLYLL DRFSPFGRFK VNSEEEEEDA
610 620 630 640 650
LTLSSAMWFS WGVLLNSGIG EGAPRSFSAR ILGMVWAGFA MIIVASYTAN
660 670 680 690 700
LAAFLVLDRP EERITGINDP RLRNPSDKFI YATVKQSSVD IYFRRQVELS
710 720 730 740 750
TMYRHMEKHN YESAAEAIQA VRDNKLHAFI WDSAVLEFEA SQKCDLVTTG
760 770 780 790 800
ELFFRSGFGI GMRKDSPWKQ NVSLSILKSH ENGFMEDLDK TWVRYQECDS
810 820 830 840 850
RSNAPATLTF ENMAGVFMLV AGGIVAGIFL IFIEIAYKRH KDARRKQMQL
860 870 880 890 900
AFAAVNVWRK NLQDRKSGRA EPDPKKKATF RAITSTLASS FKRRRSSKDT
910 920 930
STGGGRGALQ NQKDTVLPRR AIEREEGQLQ LCSRHRES
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ5VSF9 | Q5VSF9_HUMAN | Glutamate receptor | GRIN1 | 922 | Annotation score: | ||
A2AVK2 | A2AVK2_HUMAN | Glutamate receptor ionotropic, NMDA... | GRIN1 | 356 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 389 | P → S in AAB25917 (PubMed:7681588).Curated | 1 | |
Sequence conflicti | 488 | E → K in AAB59361 (PubMed:8406025).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079984 | 217 | R → W in NDHMSR; changed glutamate-gated calcium ion channel activity; increased inhibition by zinc. 1 PublicationCorresponds to variant dbSNP:rs200777850EnsemblClinVar. | 1 | |
Natural variantiVAR_079985 | 227 | D → H in NDHMSR; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs869312865Ensembl. | 1 | |
Natural variantiVAR_079986 | 306 | R → Q Found in a patient with schizophrenia; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_079987 | 349 | A → S1 PublicationCorresponds to variant dbSNP:rs148008303EnsemblClinVar. | 1 | |
Natural variantiVAR_079988 | 419 | T → A1 PublicationCorresponds to variant dbSNP:rs763133592EnsemblClinVar. | 1 | |
Natural variantiVAR_049187 | 540 | I → M1 PublicationCorresponds to variant dbSNP:rs3181457Ensembl. | 1 | |
Natural variantiVAR_079989 | 552 | D → E in NDHMSD; changed localization to the cell membrane; decreased glutamate-gated calcium ion channel activity. 3 PublicationsCorresponds to variant dbSNP:rs1554770054EnsemblClinVar. | 1 | |
Natural variantiVAR_079990 | 556 – 938 | Missing in NDHMSR; loss of function in calcium ion transmembrane import into cytosol. 1 PublicationAdd BLAST | 383 | |
Natural variantiVAR_079991 | 557 | P → R in NDHMSD; changed localization to the cell membrane; loss of glutamate-gated calcium ion channel activity. 3 PublicationsCorresponds to variant dbSNP:rs878853143EnsemblClinVar. | 1 | |
Natural variantiVAR_066597 | 560 | S → SS in NDHMSD; there is near abolition of the activity of the NMDA receptor in Xenopus oocytes; alters the 3-dimensional structure at the receptor's channel pore entrance. 1 Publication | 1 | |
Natural variantiVAR_079992 | 618 | G → R in NDHMSD; loss of function in calcium ion transmembrane import into cytosol. 1 Publication | 1 | |
Natural variantiVAR_079993 | 620 | G → R in NDHMSD; decreased localization to the plasma membrane of GRIN1/GRIN2B NMDA receptor complexes; changed glutamate-gated calcium ion channel activity; decreased activation by glutamate and glycine; decreased sensitivity to magnesium block; loss of function in calcium ion transmembrane import into cytosol. 2 PublicationsCorresponds to variant dbSNP:rs797045047EnsemblClinVar. | 1 | |
Natural variantiVAR_079994 | 641 | M → I in NDHMSD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1060500046EnsemblClinVar. | 1 | |
Natural variantiVAR_079995 | 645 | A → S in NDHMSD; unknown pathological significance; no effect on glutamate-gated calcium ion channel activity. 1 Publication | 1 | |
Natural variantiVAR_079996 | 647 | Y → S in NDHMSD; loss of glutamate-gated calcium ion channel activity. 1 Publication | 1 | |
Natural variantiVAR_079997 | 650 | N → K in NDHMSD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs771610568EnsemblClinVar. | 1 | |
Natural variantiVAR_066598 | 662 | E → K in NDHMSD; this mutation produces a significant increase in NMDA receptor-induced calcium currents; excessive calcium influx through NMDA receptor could lead to excitotoxic neuronal cell damage. 1 PublicationCorresponds to variant dbSNP:rs387906635EnsemblClinVar. | 1 | |
Natural variantiVAR_069057 | 682 | A → S1 PublicationCorresponds to variant dbSNP:rs1126448Ensembl. | 1 | |
Natural variantiVAR_079998 | 688 | S → Y in NDHMSD. 1 Publication | 1 | |
Natural variantiVAR_079999 | 815 | G → R in NDHMSD; loss of glutamate-gated calcium ion channel activity. 2 PublicationsCorresponds to variant dbSNP:rs797044925EnsemblClinVar. | 1 | |
Natural variantiVAR_080000 | 815 | G → V in NDHMSD. 1 Publication | 1 | |
Natural variantiVAR_080001 | 817 | F → L in NDHMSD; decreased glutamate-gated calcium ion channel activity. 1 PublicationCorresponds to variant dbSNP:rs1554770624EnsemblClinVar. | 1 | |
Natural variantiVAR_080002 | 827 | G → R in NDHMSD; loss of function in calcium ion transmembrane import into cytosol. 2 PublicationsCorresponds to variant dbSNP:rs1451230055EnsemblClinVar. | 1 | |
Natural variantiVAR_080003 | 844 | R → C in NDHMSD; no effect on glutamate-gated calcium ion channel activity. 1 PublicationCorresponds to variant dbSNP:rs1554770667EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_011777 | 190 | K → KSKKRNYENLDQLSYDNKRG PK in isoform 5, isoform 6 and isoform 7. 2 Publications | 1 | |
Alternative sequenceiVSP_045464 | 864 – 938 | DRKSG…RHRES → QYHPTDITGPLNLSDPSVST VV in isoform 7. 1 PublicationAdd BLAST | 75 | |
Alternative sequenceiVSP_000139 | 864 – 900 | Missing in isoform 2. 1 PublicationAdd BLAST | 37 | |
Alternative sequenceiVSP_000137 | 864 – 885 | DRKSG…RAITS → QYHPTDITGPLNLSDPSVST VV in isoform 1. 2 PublicationsAdd BLAST | 22 | |
Alternative sequenceiVSP_000138 | 886 – 938 | Missing in isoform 1. 2 PublicationsAdd BLAST | 53 | |
Alternative sequenceiVSP_011778 | 901 – 922 | STGGG…PRRAI → QYHPTDITGPLNLSDPSVST VV in isoform 4 and isoform 6. 2 PublicationsAdd BLAST | 22 | |
Alternative sequenceiVSP_011779 | 923 – 938 | Missing in isoform 4 and isoform 6. 2 PublicationsAdd BLAST | 16 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000371546; ENSP00000360601; ENSG00000176884 [Q05586-5] ENST00000371550; ENSP00000360605; ENSG00000176884 [Q05586-3] ENST00000371553; ENSP00000360608; ENSG00000176884 [Q05586-6] ENST00000371559; ENSP00000360614; ENSG00000176884 [Q05586-2] ENST00000371560; ENSP00000360615; ENSG00000176884 [Q05586-7] ENST00000371561; ENSP00000360616; ENSG00000176884 |
GeneIDi | 2902 |
KEGGi | hsa:2902 |
MANE-Selecti | ENST00000371561.8; ENSP00000360616.3; NM_007327.4; NP_015566.1 |
UCSCi | uc004clk.4, human [Q05586-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Wikipedia NMDA receptor entry |
Sequence databases
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2HQW | X-ray | 1.90 | B | 875-898 | [»] | |
2NR1 | NMR | - | A | 599-621 | [»] | |
3BYA | X-ray | 1.85 | B | 875-898 | [»] | |
5H8F | X-ray | 1.81 | B | 394-544 | [»] | |
B | 663-800 | [»] | ||||
5H8H | X-ray | 2.23 | B | 394-544 | [»] | |
B | 663-800 | [»] | ||||
5H8N | X-ray | 2.50 | B | 394-544 | [»] | |
B | 663-800 | [»] | ||||
5H8Q | X-ray | 1.90 | B | 394-544 | [»] | |
B | 663-800 | [»] | ||||
5I2K | X-ray | 2.86 | B | 394-544 | [»] | |
B | 663-800 | [»] | ||||
5I2N | X-ray | 2.12 | B | 394-544 | [»] | |
B | 663-800 | [»] | ||||
5KCJ | X-ray | 2.09 | B | 394-544 | [»] | |
B | 663-800 | [»] | ||||
5KDT | X-ray | 2.44 | B | 394-544 | [»] | |
B | 663-800 | [»] | ||||
5TP9 | X-ray | 2.40 | B | 394-544 | [»] | |
B | 663-800 | [»] | ||||
5TPA | X-ray | 2.48 | B | 394-544 | [»] | |
B | 663-800 | [»] | ||||
6IRA | electron microscopy | 4.50 | A/C | 1-847 | [»] | |
6IRF | electron microscopy | 5.10 | A/C | 1-847 | [»] | |
6IRG | electron microscopy | 5.50 | A/C | 1-847 | [»] | |
6IRH | electron microscopy | 7.80 | A/C | 1-847 | [»] | |
7EOQ | electron microscopy | 4.10 | B/D | 1-847 | [»] | |
7EOR | electron microscopy | 4.00 | B/D | 1-847 | [»] | |
7EOS | electron microscopy | 3.90 | B/D | 1-847 | [»] | |
7EOT | electron microscopy | 3.80 | B/D | 1-847 | [»] | |
7EOU | electron microscopy | 4.30 | B/D | 1-847 | [»] | |
7EU7 | electron microscopy | 3.50 | A/C | 1-847 | [»] | |
7EU8 | electron microscopy | 4.07 | A/C | 1-847 | [»] | |
SMRi | Q05586 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 109159, 53 interactors |
ComplexPortali | CPX-2202, NMDA receptor complex, GluN1-GluN2A CPX-285, NMDA receptor complex, GluN1-GluN2B CPX-286, NMDA receptor complex, GluN1-GluN2C CPX-289, NMDA receptor complex, GluN1-GluN2D CPX-294, NMDA receptor complex, GluN1-GluN2A-GluN2B |
CORUMi | Q05586 |
IntActi | Q05586, 11 interactors |
MINTi | Q05586 |
STRINGi | 9606.ENSP00000360608 |
Chemistry databases
BindingDBi | Q05586 |
ChEMBLi | CHEMBL2015 |
DrugBanki | DB01931, 5,7-Dichlorokynurenic acid DB00659, Acamprosate DB06151, Acetylcysteine DB08838, Agmatine DB01238, Aripiprazole DB00289, Atomoxetine DB05824, CNS-5161 DB04620, Cycloleucine DB03929, D-Serine DB00843, Donepezil DB00228, Enflurane DB11823, Esketamine DB13146, Fluciclovine (18F) DB06741, Gavestinel DB00142, Glutamic acid DB00874, Guaifenesin DB08954, Ifenprodil DB06738, Ketobemidone DB09409, Magnesium acetate tetrahydrate DB09481, Magnesium carbonate DB01043, Memantine DB00454, Meperidine DB00333, Methadone DB04896, Milnacipran DB01173, Orphenadrine DB00312, Pentobarbital DB01174, Phenobarbital DB01708, Prasterone DB00418, Secobarbital DB00193, Tramadol |
DrugCentrali | Q05586 |
GuidetoPHARMACOLOGYi | 455 |
Protein family/group databases
TCDBi | 1.A.10.1.20, the glutamate-gated ion channel (gic) family of neurotransmitter receptors |
PTM databases
GlyGeni | Q05586, 13 sites, 1 O-linked glycan (1 site) |
iPTMneti | Q05586 |
PhosphoSitePlusi | Q05586 |
Genetic variation databases
BioMutai | GRIN1 |
DMDMi | 548377 |
Proteomic databases
MassIVEi | Q05586 |
PaxDbi | Q05586 |
PeptideAtlasi | Q05586 |
PRIDEi | Q05586 |
ProteomicsDBi | 58336 [Q05586-1] 58337 [Q05586-2] 58338 [Q05586-3] 58339 [Q05586-4] 58340 [Q05586-5] 65258 65259 |
Protocols and materials databases
ABCDi | Q05586, 7 sequenced antibodies |
Antibodypediai | 3475, 1292 antibodies from 49 providers |
DNASUi | 2902 |
Genome annotation databases
Ensembli | ENST00000371546; ENSP00000360601; ENSG00000176884 [Q05586-5] ENST00000371550; ENSP00000360605; ENSG00000176884 [Q05586-3] ENST00000371553; ENSP00000360608; ENSG00000176884 [Q05586-6] ENST00000371559; ENSP00000360614; ENSG00000176884 [Q05586-2] ENST00000371560; ENSP00000360615; ENSG00000176884 [Q05586-7] ENST00000371561; ENSP00000360616; ENSG00000176884 |
GeneIDi | 2902 |
KEGGi | hsa:2902 |
MANE-Selecti | ENST00000371561.8; ENSP00000360616.3; NM_007327.4; NP_015566.1 |
UCSCi | uc004clk.4, human [Q05586-1] |
Organism-specific databases
CTDi | 2902 |
DisGeNETi | 2902 |
GeneCardsi | GRIN1 |
GeneReviewsi | GRIN1 |
HGNCi | HGNC:4584, GRIN1 |
HPAi | ENSG00000176884, Tissue enriched (brain) |
MalaCardsi | GRIN1 |
MIMi | 138249, gene 614254, phenotype 617820, phenotype |
neXtProti | NX_Q05586 |
OpenTargetsi | ENSG00000176884 |
Orphaneti | 178469, Autosomal dominant non-syndromic intellectual disability 208447, Bilateral generalized polymicrogyria |
PharmGKBi | PA28978 |
VEuPathDBi | HostDB:ENSG00000176884 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4440, Eukaryota |
GeneTreei | ENSGT00940000158016 |
HOGENOMi | CLU_007257_2_0_1 |
InParanoidi | Q05586 |
OMAi | SGFYHIP |
OrthoDBi | 188544at2759 |
PhylomeDBi | Q05586 |
TreeFami | TF351405 |
Enzyme and pathway databases
PathwayCommonsi | Q05586 |
Reactomei | R-HSA-3928662, EPHB-mediated forward signaling R-HSA-438066, Unblocking of NMDA receptors, glutamate binding and activation R-HSA-442982, Ras activation upon Ca2+ influx through NMDA receptor R-HSA-5673001, RAF/MAP kinase cascade R-HSA-6794361, Neurexins and neuroligins R-HSA-8849932, Synaptic adhesion-like molecules R-HSA-9609736, Assembly and cell surface presentation of NMDA receptors R-HSA-9617324, Negative regulation of NMDA receptor-mediated neuronal transmission R-HSA-9620244, Long-term potentiation |
SignaLinki | Q05586 |
SIGNORi | Q05586 |
Miscellaneous databases
BioGRID-ORCSi | 2902, 5 hits in 1034 CRISPR screens |
ChiTaRSi | GRIN1, human |
EvolutionaryTracei | Q05586 |
GeneWikii | GRIN1 |
GenomeRNAii | 2902 |
Pharosi | Q05586, Tclin |
PROi | PR:Q05586 |
RNActi | Q05586, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000176884, Expressed in anterior cingulate cortex and 200 other tissues |
ExpressionAtlasi | Q05586, baseline and differential |
Genevisiblei | Q05586, HS |
Family and domain databases
InterProi | View protein in InterPro IPR001828, ANF_lig-bd_rcpt IPR018882, CaM-bd_C0_NMDA_rcpt_NR1 IPR019594, Glu/Gly-bd IPR001508, Iono_rcpt_met IPR001320, Iontro_rcpt IPR028082, Peripla_BP_I |
Pfami | View protein in Pfam PF01094, ANF_receptor, 1 hit PF10562, CaM_bdg_C0, 1 hit PF00060, Lig_chan, 1 hit PF10613, Lig_chan-Glu_bd, 1 hit |
PRINTSi | PR00177, NMDARECEPTOR |
SMARTi | View protein in SMART SM00918, Lig_chan-Glu_bd, 1 hit SM00079, PBPe, 1 hit |
SUPFAMi | SSF53822, SSF53822, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | NMDZ1_HUMAN | |
Accessioni | Q05586Primary (citable) accession number: Q05586 Secondary accession number(s): A6NLK7 Q9UPF9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 1, 1994 |
Last sequence update: | June 1, 1994 | |
Last modified: | February 23, 2022 | |
This is version 241 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families