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MIRAGE
Glutamate receptor ionotropic, NMDA 1
Summary
- UniProt ID
- Q05586
- Gene Symbol
- GRIN1 NMDAR1
- Gene ID
- 2902
- Organism
- Homo sapiens (human)
Annotation
- Keyword
- 3D-structure Alternative splicing Calcium Cell membrane Disease variant Disulfide bond Epilepsy Glycoprotein Intellectual disability Ligand-gated ion channel Magnesium Metal-binding Phosphoprotein Postsynaptic cell membrane Proteomics identification Receptor Reference proteome Signal Transmembrane helix Zinc
Gene Ontology (GO)
| GO Term | Evidence Code | Reference |
|---|---|---|
| monoatomic cation transport | ||
| chemical synaptic transmission | ||
| brain development | ||
| visual learning | ||
| positive regulation of calcium ion transport into cytosol |
GO Hierarchy
biological process
cellular process [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of signaling [inference]
regulation of localization [inference]
positive regulation of biological process [inference]
regulation of cellular process [inference]
regulation of cell communication [inference]
regulation of metabolic process [inference]
regulation of transmembrane transport [inference]
positive regulation of cellular process [inference]
| GO Term | Evidence Code | Reference |
|---|---|---|
| cytoplasm | ||
| endoplasmic reticulum membrane | ||
| endoplasmic reticulum membrane | ||
| plasma membrane | ||
| plasma membrane |
| GO Term | Evidence Code | Reference |
|---|---|---|
| amyloid-beta binding | ||
| NMDA glutamate receptor activity | ||
| NMDA glutamate receptor activity | ||
| NMDA glutamate receptor activity | ||
| NMDA glutamate receptor activity |
GO Hierarchy
Sequence
MSTMRLLTLALLFSCSVARAACDPKIVNIGAVLSTRKHEQMFREAVNQANKRHGSWKIQLNATSVTHKPNAIQMALSVCEDLISSQVYAILVSHPPTPNDHFTPTPVSYTAGFYRIPVLGLTTRMSIYSDKSIHLSFLRTVPPYSHQSSVWFEMMRVYSWNHIILLVSDDHEGRAAQKRLETLLEERESKAEKVLQFDPGTKNVTALLMEAKELEARVIILSASEDDAATVYRAAAMLNMTGSGYVWLVGEREISGNALRYAPDGILGLQLINGKNESAHISDAVGVVAQAVHELLEKENITDPPRGCVGNTNIWKTGPLFKRVLMSSKYADGVTGRVEFNEDGDRKFANYSIMNLQNRKLVQVGIYNGTHVIPNDRKIIWPGGETEKPRGYQMSTRLKIVTIHQEPFVYVKPTLSDGTCKEEFTVNGDPVKKVICTGPNDTSPGSPRHTVPQCCYGFCIDLLIKLARTMNFTYEVHLVADGKFGTQERVNNSNKKEWNGMMGELLSGQADMIVAPLTINNERAQYIEFSKPFKYQGLTILVKKEIPRSTLDSFMQPFQSTLWLLVGLSVHVVAVMLYLLDRFSPFGRFKVNSEEEEEDALTLSSAMWFSWGVLLNSGIGEGAPRSFSARILGMVWAGFAMIIVASYTANLAAFLVLDRPEERITGINDPRLRNPSDKFIYATVKQSSVDIYFRRQVELSTMYRHMEKHNYESAAEAIQAVRDNKLHAFIWDSAVLEFEASQKCDLVTTGELFFRSGFGIGMRKDSPWKQNVSLSILKSHENGFMEDLDKTWVRYQECDSRSNAPATLTFENMAGVFMLVAGGIVAGIFLIFIEIAYKRHKDARRKQMQLAFAAVNVWRKNLQDRKSGRAEPDPKKKATFRAITSTLASSFKRRRSSKDTSTGGGRGALQNQKDTVLPRRAIEREEGQLQLCSRHRES
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 61 |
|
|
||
| 203 |
|
|
||
| 205 |
|
|||
| 239 |
|
|
||
| 276 |
|
|
||
| 300 |
|
|||
| 350 |
|
|
||
| 368 |
|
|
||
| 440 |
|
|
||
| 471 |
|
G49108TO
G31852PQ
G02815KT
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Assembly and cell surface presentation of NMDA receptors | Homo sapiens |
| EPHB-mediated forward signaling | Homo sapiens |
| Long-term potentiation | Homo sapiens |
| Negative regulation of NMDA receptor-mediated neuronal transmission | Homo sapiens |
| Neurexins and neuroligins | Homo sapiens |
| RAF/MAP kinase cascade | Homo sapiens |
| Ras activation upon Ca2+ influx through NMDA receptor | Homo sapiens |
| Synaptic adhesion-like molecules | Homo sapiens |
| Unblocking of NMDA receptors, glutamate binding and activation | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070038 | autosomal dominant intellectual developmental disorder 8 | |
| DOID:1574 | alcohol use disorder | |
| DOID:0070387 | developmental and epileptic encephalopathy 101 | |
| DOID:3526 | cerebral infarction |
