Statements (48)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
hyperekplexia
|
| gptkbp:component |
gptkb:glycine_receptor
|
| gptkbp:discoveredIn |
1993
|
| gptkbp:encodes |
glycine receptor alpha-1 protein
|
| gptkbp:Entrez_Gene_ID |
2741
ENSG00000145888 |
| gptkbp:expressedIn |
central nervous system
|
| gptkbp:fullName |
glycine receptor alpha 1 subunit
|
| gptkbp:function |
inhibitory neurotransmission
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:GO_term |
startle response
nervous system development postsynaptic membrane receptor activity integral component of membrane ion transport regulation of membrane potential multicellular organism development chloride channel activity chloride transmembrane transport inhibitory synapse synaptic transmission, glycinergic glycine-gated ion channel activity response to glycine |
| gptkbp:hasProteinLength |
457 amino acids
|
| gptkbp:hasTranscriptVariant |
multiple
|
| https://www.w3.org/2000/01/rdf-schema#label |
GLRA1
|
| gptkbp:interactsWith |
gptkb:GLRB
gephyrin |
| gptkbp:length |
4,000 bp (approximate)
|
| gptkbp:locatedOnChromosome |
5q32
|
| gptkbp:mutationAssociatedWith |
startle disease
|
| gptkbp:numberOfExons |
9
|
| gptkbp:OMIM |
138491
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologIn |
mouse Glra1
|
| gptkbp:pathway |
gptkb:GABAergic_synapse
gptkb:Neuroactive_ligand-receptor_interaction |
| gptkbp:PDB |
5CFB
5VDH 6PM6 |
| gptkbp:product |
gptkb:Glycine_receptor_subunit_alpha-1
|
| gptkbp:significance |
pathogenic variants cause hyperekplexia
|
| gptkbp:UniProtID |
P23415
|
| gptkbp:bfsParent |
gptkb:glycine_receptor
|
| gptkbp:bfsLayer |
7
|