Gene
grin1a
- ID
- ZDB-GENE-051202-1
- Name
- glutamate receptor, ionotropic, N-methyl D-aspartate 1a
- Symbol
- grin1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Enables ligand-gated monoatomic ion channel activity. Involved in calcium ion transmembrane transport. Predicted to be located in postsynaptic membrane. Predicted to be part of NMDA selective glutamate receptor complex. Predicted to be active in neuron projection; plasma membrane; and synapse. Is expressed in brain; head; neural tube; presumptive neural retina; and spinal cord. Human ortholog(s) of this gene implicated in alcohol use disorder; autosomal dominant intellectual developmental disorder 8; cerebral infarction; and developmental and epileptic encephalopathy. Orthologous to human GRIN1 (glutamate ionotropic receptor NMDA type subunit 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 19 figures from 14 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Zoodsma et al., 2020
- 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 | Alliance | 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, C-terminal |
Domain | IPR001828 | Receptor, ligand binding region |
Domain | IPR019594 | Ionotropic glutamate receptor, L-glutamate and glycine-binding domain |
Domain | IPR049872 | Glutamate [NMDA] receptor subunit 1-like, ligand-binding domain |
Domain | IPR049873 | Glutamate [NMDA] receptor subunit 1-like, N-terminal LIVBP-like domain |
Family | IPR001508 | Ionotropic glutamate receptor, metazoa |
Family | IPR015683 | Ionotropic glutamate receptor |
Homologous_superfamily | IPR028082 | Periplasmic binding protein-like I |
Domain Details Per Protein
Protein | Length | Glutamate [NMDA] receptor subunit 1-like, ligand-binding domain | Glutamate [NMDA] receptor subunit 1-like, N-terminal LIVBP-like domain | Ionotropic glutamate receptor | Ionotropic glutamate receptor, C-terminal | Ionotropic glutamate receptor, L-glutamate and glycine-binding domain | Ionotropic glutamate receptor, metazoa | Periplasmic binding protein-like I | Receptor, ligand binding region |
---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M2B7Z5
|
880 | ||||||||
UniProtKB:F1R366
|
901 | ||||||||
UniProtKB:A0A8M2B802
|
914 | ||||||||
UniProtKB:A0A8M2B7Z4
|
951 | ||||||||
UniProtKB:A0A8M9PCT9
|
938 | ||||||||
UniProtKB:A0A8M9PQL9
|
942 | ||||||||
UniProtKB:A0A8M3ALB6
|
930 | ||||||||
UniProtKB:A0A8M3ATQ3
|
947 | ||||||||
UniProtKB:A0A8M2B7Z7
|
905 | ||||||||
UniProtKB:A0A8M9PIG4
|
917 | ||||||||
UniProtKB:A0A8M3B4K1
|
926 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
grin1a-201
(1)
|
Ensembl | 1,248 nt | ||
mRNA |
grin1a-202
(1)
|
Ensembl | 4,549 nt | ||
mRNA |
grin1a-203
(1)
|
Ensembl | 2,847 nt | ||
mRNA |
grin1a-204
(1)
|
Ensembl | 2,933 nt |
Interactions and Pathways
No data available
Plasmids
No data available