Gene
glra1
- ID
- ZDB-GENE-991117-1
- Name
- glycine receptor, alpha 1
- Symbol
- glra1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Exhibits extracellularly glycine-gated chloride channel activity and glycine binding activity. Predicted to contribute to chloride channel activity. Involved in ion transport; nervous system development; and response to amino acid. Localizes to integral component of membrane. Used to study hyperekplexia. Human ortholog(s) of this gene implicated in hyperekplexia 1. Is expressed in brain; hindbrain; and spinal cord. Orthologous to human GLRA1 (glycine receptor alpha 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 13 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
hyperekplexia 1 | Alliance | Hyperekplexia 1 | 149400 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
hyperekplexia | glra1udm105/udm105 | standard conditions | Samarut et al., 2019 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR018000 | Neurotransmitter-gated ion-channel, conserved site |
Domain | IPR006029 | Neurotransmitter-gated ion-channel transmembrane domain |
Domain | IPR006202 | Neurotransmitter-gated ion-channel ligand-binding domain |
Family | IPR006028 | Gamma-aminobutyric acid A receptor/Glycine receptor alpha |
Family | IPR006201 | Neurotransmitter-gated ion-channel |
Family | IPR008127 | Glycine receptor alpha |
Family | IPR008128 | Glycine receptor alpha1 |
Homologous_superfamily | IPR036719 | Neurotransmitter-gated ion-channel transmembrane domain superfamily |
Homologous_superfamily | IPR036734 | Neurotransmitter-gated ion-channel ligand-binding domain superfamily |
Homologous_superfamily | IPR038050 | Neuronal acetylcholine receptor |
Domain Details Per Protein
Protein | Length | Gamma-aminobutyric acid A receptor/Glycine receptor alpha | Glycine receptor alpha | Glycine receptor alpha1 | Neuronal acetylcholine receptor | Neurotransmitter-gated ion-channel | Neurotransmitter-gated ion-channel, conserved site | Neurotransmitter-gated ion-channel ligand-binding domain | Neurotransmitter-gated ion-channel ligand-binding domain superfamily | Neurotransmitter-gated ion-channel transmembrane domain | Neurotransmitter-gated ion-channel transmembrane domain superfamily |
---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:E9QC31
|
457 | ||||||||||
UniProtKB:Q8QG93
|
459 | ||||||||||
UniProtKB:B3DHZ5
|
444 | ||||||||||
UniProtKB:O93430
|
444 |
Interactions and Pathways
No data available
Plasmids
No data available