Gene
grin1b
- ID
- ZDB-GENE-051202-2
- Name
- glutamate receptor, ionotropic, N-methyl D-aspartate 1b
- Symbol
- grin1b Nomenclature History
- Previous Names
-
- NMDAR1.2 (1)
- si:rp71-1o1.1
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to contribute to NMDA glutamate receptor activity. Predicted to be involved in chemical synaptic transmission; ionotropic glutamate receptor signaling pathway; and regulation of membrane potential. Predicted to localize to NMDA selective glutamate receptor complex; neuron projection; and synapse. Is expressed in brain. Human ortholog(s) of this gene implicated in alcohol use disorder; autosomal dominant non-syndromic intellectual disability 8; and cerebral infarction. Orthologous to human GRIN1 (glutamate ionotropic receptor NMDA type subunit 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
autosomal dominant intellectual developmental disorder 8 | Alliance | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 |
Developmental and epileptic encephalopathy 101 | 619814 | ||
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | 617820 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR001320 | Ionotropic glutamate receptor |
Domain | IPR001828 | Receptor, ligand binding region |
Domain | IPR018882 | Calmodulin-binding domain C0, NMDA receptor, NR1 subunit |
Domain | IPR019594 | Ionotropic glutamate receptor, L-glutamate and glycine-binding domain |
Family | IPR001508 | Ionotropic glutamate receptor, metazoa |
Homologous_superfamily | IPR028082 | Periplasmic binding protein-like I |
Domain Details Per Protein
Protein | Length | Calmodulin-binding domain C0, NMDA receptor, NR1 subunit | Ionotropic glutamate receptor | Ionotropic glutamate receptor, L-glutamate and glycine-binding domain | Ionotropic glutamate receptor, metazoa | Periplasmic binding protein-like I | Receptor, ligand binding region |
---|---|---|---|---|---|---|---|
UniProtKB:Q6ZM67
|
937 | ||||||
UniProtKB:B7TWQ4
|
89 | ||||||
UniProtKB:A0A0R4IGA0
|
879 |
Type | Name | Length (nt) | Analysis |
---|---|---|---|
mRNA |
grin1b-201
(1)
|
3728 nt |
Interactions and Pathways
No data available
Plasmids
No data available